Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Heparin cofactor 2

The SERPIND1 gene encodes a serpin which is involved in regulation of coagulation. Mutations cause autosomal dominant thrombophilia due to heparin cofactor 2 deficiency.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Thrombophilia due to heparin cofactor 2 deficiency
SERPIND1

References:

1.

Herzog R et al. (1991) Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11.

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2.

Andersson TR et al. (1987) Low heparin cofactor II associated with abnormal crossed immunoelectrophoresis pattern in two Norwegian families.

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3.

Blinder MA et al. (1989) Heparin cofactor IIOslo. Mutation of Arg-189 to His decreases the affinity for dermatan sulfate.

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4.

Kondo S et al. (1996) Molecular and cellular basis for type I heparin cofactor II deficiency (heparin cofactor II Awaji).

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5.

Kanagawa Y et al. (2001) Molecular mechanism of type I congenital heparin cofactor (HC) II deficiency caused by a missense mutation at reactive P2 site: HC II Tokushima.

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6.

Blinder MA et al. (1988) Heparin cofactor II: cDNA sequence, chromosome localization, restriction fragment length polymorphism, and expression in Escherichia coli.

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7.

None (1986) A new member of the plasma protease inhibitor gene family.

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8.

Bernardi F et al. (1996) A heparin cofactor II mutation (HCII Rimini) combined with factor V Leiden or type I protein C deficiency in two unrelated thrombophilic subjects.

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9.

Aihara K et al. (2004) Heparin cofactor II is a novel protective factor against carotid atherosclerosis in elderly individuals.

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10.

Vicente CP et al. (2007) Accelerated atherogenesis and neointima formation in heparin cofactor II deficient mice.

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11.

NCBI article

NCBI 3053 external link
12.

OMIM.ORG article

Omim 142360 external link
13.

Wikipedia article

Wikipedia EN (Heparin_cofactor_II) external link
Update: Aug. 14, 2020
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